Gene Variant Detail

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Gene RAD51C
Variant L27P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51C L27P lies within the region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). L27P binds to Rad51b, Rad51d, and Xrcc3 to similar levels as wild-type protein in a yeast assay, however, results in reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, is predicted to lead to a loss of Rad51c protein function.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C L27P

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Transcript NM_058216.3
gDNA chr17:g.58692723T>C
cDNA c.80T>C
Protein p.L27P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001.5 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
NM_002876.3 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58692723T>C c.80T>C p.L27P RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
RAD51C L27P loss of function - predicted Olaparib